Assess risk of Celiac Disease in symptomatic patients and in family members of patients with Celiac Disease. More than 97% of Celiac patients carry either HLA-DQ2. (DQA1*05/DQB1*02) or HLA-DQ8 (DQA1*03/DQB1*0302) or both. However, 39% of the general U.S. population carry these HLA-DQ variants, as a consequence, the presence of HLA-DQ2 or DQ8 or both variants is not per se diagnostic of Celiac Disease.

Birdshot retinochoroidopathy (BSCR) is a rare posterior uveitis, characterized by distinctive, multiple, hypopigmented choroidal and retinal lesions. At least 96% of patients, if not all, share the major histocompatibility antigen, HLA-A29. However, most HLA-A29 positive individuals do not have this disease. Together with clinical manifestations, HLA-A29 typing is used for diagnosis of BSCR.

Pharmacogenetics

HLA-B*5701 has been shown in retrospective clinical studies to be associated with Abacavir hypersensitivity reaction (HSR) in HIV patients. In Abacavir-naive patients, HLA-B*5701 genotyping may be useful for risk stratification.

Dangerous or even fatal skin reactions (Stevens-Johnson syndrome and toxic epidermal necrolysis), that can be caused by carbamazepine therapy, are significantly more common in patients with the HLA-B*1502 allele. This allele occurs almost exclusively in patients with ancestry across broad areas of Asia, including South Asian Indians. HLA-B*1502 genotyping may be useful for risk stratification.